ClinVar Miner

List of variants in gene CDKN2A reported as pathogenic by GeneDx

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) rs104894095 0.00001
NM_000077.5(CDKN2A):c.458-105A>G rs1060501266 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000077.4:c.206_229delAGCCCAACTGCGCCGACCCCGinsCAG
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.106dup (p.Ala36fs) rs398123152
NM_000077.5(CDKN2A):c.131_132insAA (p.Tyr44Ter) rs730881673
NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter) rs730881673
NM_000077.5(CDKN2A):c.148C>T (p.Gln50Ter) rs864622636
NM_000077.5(CDKN2A):c.151-1G>C rs730881677
NM_000077.5(CDKN2A):c.151-1G>T rs730881677
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) rs730881674
NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs) rs730881675
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.307_308del (p.Arg103fs) rs886041162
NM_000077.5(CDKN2A):c.329G>A (p.Trp110Ter) rs1057519852
NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup) rs768966657
NM_000077.5(CDKN2A):c.339_340delinsCT (p.Pro114Ser) rs387906410
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000077.5(CDKN2A):c.44_46dup (p.Trp15_Leu16insArg) rs730881672
NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg) rs864622263
NM_000077.5(CDKN2A):c.79G>T (p.Glu27Ter) rs1554656411
NM_058195.4(CDKN2A):c.193+1G>A rs1060501262

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